Dennis W Bartholomew

Dennis W Bartholomew

UNVERIFIED PROFILE

Are you Dennis W Bartholomew?   Register this Author

Register author
Dennis W Bartholomew

Dennis W Bartholomew

Publications by authors named "Dennis W Bartholomew"

Are you Dennis W Bartholomew?   Register this Author

10Publications

132Reads

-Profile Views

Matched unrelated donor transplantation in glycogen storage disease type 1b patient corrects severe neutropenia and recurrent infections.

Bone Marrow Transplant 2018 Aug 7;53(8):1076-1078. Epub 2018 Mar 7.

Division of Pediatric Hematology, Oncology and Bone Marrow Transplant, Nationwide Children's Hospital, Columbus, OH, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41409-018-0147-zDOI Listing
August 2018

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Am J Med Genet A 2017 May 3;173(5):1309-1318. Epub 2017 Apr 3.

Center for Applied Clinical Genomics, A. I. duPont Hospital for Children/Nemours, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397353PMC
May 2017

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

Pediatr Neurol 2014 Nov 26;51(5):734-6. Epub 2014 Jun 26.

Center for Molecular and Human Genetics, Nationwide Children's Hospital Research Institute, Columbus, Ohio; Department of Pediatrics, The Ohio State University College of Medicine and Public Health, Columbus, Ohio.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2014.06.015DOI Listing
November 2014

Recurrent pancreatitis in ornithine transcarbamylase deficiency.

Mol Genet Metab 2012 Aug 15;106(4):482-4. Epub 2012 Jun 15.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.06.005DOI Listing
August 2012

Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.

Am J Med Genet A 2005 Apr;134A(2):198-201

Department of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30592
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30592DOI Listing
April 2005

Cystic fibrosis--a genetic dilemma.

J Insur Med 2004 ;36(2):158-61

Union Central Life Insurance Company, Cincinnati, OH 45240, USA.

View Article

Download full-text PDF

Source
September 2004

Craniofacial-deafness-hand syndrome revisited.

Am J Med Genet A 2003 Nov;123A(1):91-4

Human and Molecular Genetics, Department of Pediatrics, The Ohio State University and Children's Hospital, Columbus, Ohio 43205-2696, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20501DOI Listing
November 2003